Linked Data
ClinVar Variation Id:
2783583
ClinVar RCV Id:
RCV003666146
dbSNP Id:
rs948301286
MyVariant Identifiers:
chr16:g.2278268C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2278268C>G , CM000678.2:g.2278268C>G | GRCh38 |
| NC_000016.9:g.2328269C>G , CM000678.1:g.2328269C>G | GRCh37 |
| NC_000016.8:g.2268270C>G | NCBI36 |
| NG_011790.1:g.67479G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.4718+20G>C MANE Select | ENSP00000301732.5:n.4718+20G>C | |
| ENST00000301732.9:c.4718+20G>C | ENSP00000301732.5:n.4718+20G>C | |
| ENST00000382381.7:c.4544+20G>C | ENSP00000371818.3:n.4544+20G>C | |
| NM_001089.2:c.4718+20G>C | NP_001080.2:n.4718+20G>C | |
| NM_001089.3:c.4718+20G>C MANE Select | NP_001080.2:n.4718+20G>C |